Variant report

Variant	rs12542121
Chromosome Location	chr8:52218176-52218177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1003095	0.95[CEU][hapmap]
rs10091279	0.94[CEU][hapmap]
rs10094879	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097749	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101803	0.95[CEU][hapmap]
rs10102454	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105228	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10107148	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110193	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113485	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1017352	0.95[CEU][hapmap]
rs1017353	0.95[CEU][hapmap]
rs1017354	0.95[CEU][hapmap]
rs1052704	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10958261	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11989863	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991037	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11993179	0.82[EUR][1000 genomes]
rs1219677	0.95[CEU][hapmap]
rs1219680	0.95[CEU][hapmap];0.81[TSI][hapmap]
rs1236097	0.95[CEU][hapmap]
rs12543420	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12549831	0.93[ASN][1000 genomes]
rs12550267	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1346954	0.95[CEU][hapmap]
rs1370443	0.90[ASN][1000 genomes]
rs1370444	0.90[ASN][1000 genomes]
rs1370445	0.84[CEU][hapmap];0.85[MEX][hapmap]
rs1370446	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431619	0.95[CEU][hapmap]
rs1431620	0.95[CEU][hapmap]
rs1431623	0.94[CEU][hapmap]
rs1431624	0.94[CEU][hapmap]
rs1431625	0.95[CEU][hapmap]
rs1431626	0.95[CEU][hapmap]
rs1431627	0.95[CEU][hapmap]
rs1431628	0.95[CEU][hapmap]
rs1560508	0.95[CEU][hapmap]
rs1560509	0.95[CEU][hapmap]
rs1560510	0.95[CEU][hapmap]
rs16915954	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16915972	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17261657	0.89[CEU][hapmap]
rs1816630	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1837086	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1837087	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1991691	0.95[CEU][hapmap]
rs1991692	0.95[CEU][hapmap]
rs2217988	0.95[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs28417640	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28449829	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28534083	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28805429	0.82[EUR][1000 genomes]
rs2915454	0.95[CEU][hapmap]
rs2915457	0.95[CEU][hapmap]
rs2915460	0.95[CEU][hapmap]
rs2915461	0.95[CEU][hapmap]
rs2915465	0.95[CEU][hapmap]
rs2915467	0.94[CEU][hapmap]
rs2915468	0.95[CEU][hapmap]
rs2915469	0.95[CEU][hapmap]
rs2915471	0.94[CEU][hapmap]
rs2915473	0.95[CEU][hapmap]
rs2915475	0.95[CEU][hapmap]
rs2915476	0.95[CEU][hapmap]
rs2915477	0.95[CEU][hapmap]
rs2915479	0.94[CEU][hapmap]
rs2915480	0.95[CEU][hapmap]
rs2915481	0.95[CEU][hapmap]
rs2915482	0.95[CEU][hapmap]
rs2915483	0.95[CEU][hapmap]
rs2915484	0.95[CEU][hapmap]
rs2915485	0.95[CEU][hapmap]
rs2915489	0.84[CEU][hapmap]
rs2976984	0.95[CEU][hapmap]
rs2976985	0.95[CEU][hapmap]
rs2976986	0.95[CEU][hapmap]
rs2976988	0.95[CEU][hapmap]
rs2976989	0.95[CEU][hapmap]
rs2976990	0.95[CEU][hapmap]
rs2976991	0.95[CEU][hapmap]
rs2976992	0.94[CEU][hapmap]
rs2976993	0.95[CEU][hapmap]
rs2976994	0.94[CEU][hapmap]
rs3097703	0.95[CEU][hapmap]
rs3097704	0.95[CEU][hapmap]
rs3097705	0.95[CEU][hapmap]
rs3097706	0.95[CEU][hapmap]
rs3115784	0.95[CEU][hapmap]
rs35426341	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4471026	0.84[EUR][1000 genomes]
rs4500070	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4873189	0.80[CEU][hapmap]
rs4873190	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873192	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873530	0.85[CEU][hapmap]
rs4873533	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873534	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873540	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873541	0.80[EUR][1000 genomes]
rs4873542	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873543	0.98[EUR][1000 genomes]
rs4873544	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57224283	0.90[ASN][1000 genomes]
rs60579236	0.82[EUR][1000 genomes]
rs6473594	0.80[EUR][1000 genomes]
rs6473595	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66555193	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67110071	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67152383	0.82[EUR][1000 genomes]
rs6986651	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6987616	0.98[EUR][1000 genomes]
rs6987775	0.98[EUR][1000 genomes]
rs6992933	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996951	0.95[CEU][hapmap]
rs6998723	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998855	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6999446	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003720	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7004460	0.80[EUR][1000 genomes]
rs7008365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016124	0.96[EUR][1000 genomes]
rs7016775	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7017403	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7017421	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs766788	0.95[CEU][hapmap]
rs766790	0.95[CEU][hapmap]
rs7813377	0.80[EUR][1000 genomes]
rs7814566	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817771	0.81[EUR][1000 genomes]
rs7818411	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818590	0.98[EUR][1000 genomes]
rs7818710	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821565	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825017	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7827306	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827446	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828080	0.80[EUR][1000 genomes]
rs7834299	0.80[EUR][1000 genomes]
rs7839630	0.98[EUR][1000 genomes]
rs7840437	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs7842457	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7844531	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844947	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845311	0.81[EUR][1000 genomes]
rs9298442	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298443	0.80[EUR][1000 genomes]
rs9298444	0.95[CEU][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs972025	0.95[CEU][hapmap]
rs972026	0.95[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3381451	chr8:52216799-52219047	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52215400-52221800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:52218000-52218200	Enhancers	Fetal Brain Male	brain

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